Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
SRXN1_chr20_641615_658200	642261	GTGGTGGG others(53): Show GTGGTGGGGGGCCAGCGGGGGTGAAGTTGCCTGGGGGGGGCCAGCGGGGG TGGAGTTGCCT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG02717.hp1 HG00642.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0016 a0001c0001t0004g0016	2	422	0.0047	-60	c.63 others(71): Show c.6393_*6452delAGGCAACTCCACCCCCGCTGGCCCCCCCCAGGCA ACTTCACCCCCGCTGGCCCCCCACCA		SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding					4353		chr20	TogoVar
SSH1_chr12_108773191_108862583	108859886	GGGAGAGG others(53): Show GGGAGAGGAGGGGAGGGGAGAGGAGGGGAGGGGAGAGGAGGGGAGGGGAG GGGAGGGGAGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02145.hp2 HG02280.hp1 others(6): Show HG02055.hp2 HG02145.hp2 HG02280.hp1 HG02451.hp2 HG02723.hp2 HG02886.hp2 HG02970.hp1 HG03225.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0004 a0001c0003 a0002c0004	a0001c0003t0001 a0001c0003t0020 a0002c0004t0016 a0001c0003t0001 a0001c0003t0020 a0002c0004t0016	a0001c0003t0001g0227 a0001c0003t0001g0234 a0001c0003t0001g0235 others(6): Show a0001c0003t0001g0227 a0001c0003t0001g0234 a0001c0003t0001g0235 a0001c0003t0020g0232 a0001c0003t0020g0233 a0002c0004t0016g0228 a0002c0004t0016g0229 a0002c0004t0016g0230 a0002c0004t0016g0231	9	332	0.0271	-60	c.-24 others(71): Show c.-2450_-2391delTCTCCCCTCCCCTCCCCTCCCCTCCTCTCCCCTC CCCTCCTCTCCCCTCCCCTCCTCTCC		SSH1	ENSG00000084112.15	transcript	ENST00000326495.10	protein_coding					2304		chr12	TogoVar
ST7_chr7_116948501_117235176	117232718	ACATGCTT others(53): Show ACATGCTTTTAAATGACCAGAATCACTATCAGACAGCACCAAGCCATGAG GTATCCGCTCC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	188	0.0053	-60	c.28 others(71): Show c.2862_*2921delCATGCTTTTAAATGACCAGAATCACTATCAGACA GCACCAAGCCATGAGGTATCCGCTCC		ST7	ENSG00000004866.22	transcript	ENST00000323984.8	protein_coding					2543		chr7	TogoVar
STAT3_chr17_42308324_42393442	42337941	GGACCTGA others(53): Show GGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGG GAATACTCCTT	G G	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01952.hp2 HG01123.hp1 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0002 a0001c0001t0009	a0001c0001t0002g0131 a0001c0001t0009g0049 a0001c0001t0002g0131 a0001c0001t0009g0049	2	302	0.0066	-60	c.551 others(74): Show c.551-144_551-85delAAGGAGTATTCCCTCAGGTCCAGGAGTATTC CCTCAGGTCCAGGAGTATTCCCTCAGGTC		STAT3	ENSG00000168610.17	transcript	ENST00000264657.10	protein_coding	6/23						chr17	TogoVar
STAT3_chr17_42308324_42393442	42338121	GGACCTGA others(53): Show GGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGG GAATACTCCTT	G G	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0132 a0001c0001t0002g0132	1	302	0.0033	-60	c.551 others(75): Show c.551-324_551-265delAAGGAGTATTCCCTCAGGTCCAGGAGTATT CCCTCAGGTCCAGGAGTATTCCCTCAGGTC		STAT3	ENSG00000168610.17	transcript	ENST00000264657.10	protein_coding	6/23						chr17	TogoVar
STAT3_chr17_42308324_42393442	42338201	GGACCTGA others(53): Show GGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGG GAATACTCCTT	G G	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01952.hp2 NA18999.hp2 HG01167.hp2 HG01952.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0009 a0001c0001t0003 a0001c0001t0009	a0001c0001t0003g0098 a0001c0001t0009g0048 a0001c0001t0009g0049 a0001c0001t0003g0098 a0001c0001t0009g0048 a0001c0001t0009g0049	3	302	0.0099	-60	c.551 others(75): Show c.551-404_551-345delAAGGAGTATTCCCTCAGGTCCAGGAGTATT CCCTCAGGTCCAGGAGTATTCCCTCAGGTC		STAT3	ENSG00000168610.17	transcript	ENST00000264657.10	protein_coding	6/23						chr17	TogoVar
STAT3_chr17_42308324_42393442	42338321	GGACCTGA others(53): Show GGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGG GAATACTCCTT	G G	intron_variant intron_variant	MODIFIER	HG02074.hp2 NA19000.hp1 HG02074.hp2 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0004t0001 a0001c0001t0002 a0001c0004t0001	a0001c0001t0002g0101 a0001c0004t0001g0100 a0001c0001t0002g0101 a0001c0004t0001g0100	2	302	0.0066	-60	c.550 others(75): Show c.550+350_550+409delAAGGAGTATTCCCTCAGGTCCAGGAGTATT CCCTCAGGTCCAGGAGTATTCCCTCAGGTC		STAT3	ENSG00000168610.17	transcript	ENST00000264657.10	protein_coding	6/23						chr17	TogoVar
STAT3_chr17_42308324_42393442	42338441	GGACCTGA others(53): Show GGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGG GAATACTCCTT	G G	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0093 a0001c0001t0002g0093	1	302	0.0033	-60	c.550 others(75): Show c.550+230_550+289delAAGGAGTATTCCCTCAGGTCCAGGAGTATT CCCTCAGGTCCAGGAGTATTCCCTCAGGTC		STAT3	ENSG00000168610.17	transcript	ENST00000264657.10	protein_coding	6/23						chr17	TogoVar
STAT3_chr17_42308324_42393442	42338461	GGACCTGA others(53): Show GGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTTGACCTGAGG GAATACTCCTT	G G	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01981.hp1 HG01952.hp2 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0002 a0001c0001t0009	a0001c0001t0002g0136 a0001c0001t0009g0049 a0001c0001t0002g0136 a0001c0001t0009g0049	2	302	0.0066	-60	c.550 others(75): Show c.550+210_550+269delAAGGAGTATTCCCTCAGGTCAAGGAGTATT CCCTCAGGTCCAGGAGTATTCCCTCAGGTC		STAT3	ENSG00000168610.17	transcript	ENST00000264657.10	protein_coding	6/23						chr17	TogoVar
STAT3_chr17_42308324_42393442	42338501	TGACCTGA others(53): Show TGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTGGACCTGAGG GAATACTCCTG	T T	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03195.hp1 HG02145.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0029 a0001c0001t0005g0032 a0001c0001t0005g0029 a0001c0001t0005g0032	2	302	0.0066	-60	c.550 others(75): Show c.550+170_550+229delCAGGAGTATTCCCTCAGGTCCAGGAGTATT CCCTCAGGTCAAGGAGTATTCCCTCAGGTC		STAT3	ENSG00000168610.17	transcript	ENST00000264657.10	protein_coding	6/23						chr17	TogoVar
STK26_chrX_132018302_132080943	132044706	GAGATCTA others(53): Show GAGATCTATATATATATTTATATATATATAGAGAGATCTATATATATATT TATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01255.hp1 HG02922.hp1 others(3): Show HG00099.hp2 HG01255.hp1 HG02922.hp1 HG03540.hp1 HG03654.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0003g0012 others(3): Show a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0003g0012 a0001c0001t0003g0014 a0001c0001t0003g0070 a0001c0001t0003g0120	6	244	0.0246	-60	c.43- others(75): Show c.43-9921_43-9862delTCTATATATATATTTATATATATATAGAGA GATCTATATATATATTTATATATATATAGA		STK26	ENSG00000134602.16	transcript	ENST00000394334.7	protein_coding	2/11					INFO_REALIGN_3_PRIME	chrX	TogoVar
STK32C_chr10_132202492_132312950	132221843	GAGTGTGA others(53): Show GAGTGTGAGGGCTTCACGTGGCCATCCCTGCACACACAACTAATATCAAC GCACCTGGGCA	G G	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0112 a0001c0001t0004g0112	1	368	0.0027	-60	c.125 others(77): Show c.1251+738_1251+797delTGCCCAGGTGCGTTGATATTAGTTGTGT GTGCAGGGATGGCCACGTGAAGCCCTCACACT		STK32C	ENSG00000165752.17	transcript	ENST00000298630.8	protein_coding	10/11						chr10	TogoVar
STK32C_chr10_132202492_132312950	132259018	AGCTTGGG others(53): Show AGCTTGGGAGGCTGCTGCACCGGGTACTGGGGGCACAGCTGGGGGCATGG ACAGGGCTGTG	A A	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01074.hp2 others(42): Show HG01069.hp2 HG01071.hp2 HG01074.hp2 HG01192.hp1 HG01884.hp1 HG01981.hp1 HG02071.hp1 HG02109.hp2 HG02129.hp2 HG02145.hp1 HG02258.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02809.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03209.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03491.hp1 HG03492.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp2 HG03710.hp1 HG03831.hp2 HG03942.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp2 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0011 a0001c0012 a0001c0021 a0001c0023 a0001c0026 a0003c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0002t0002 a0001c0002t0003 a0001c0003t0001 a0001c0003t0018 a0001c0005t0003 a0001c0006t0002 a0001c0011t0019 a0001c0012t0007 a0001c0021t0002 a0001c0023t0003 a0001c0026t0013 a0003c0007t0006 a0003c0007t0009	a0001c0001t0001g0041 a0001c0001t0001g0047 a0001c0001t0001g0054 others(42): Show a0001c0001t0001g0041 a0001c0001t0001g0047 a0001c0001t0001g0054 a0001c0001t0001g0064 a0001c0001t0001g0091 a0001c0001t0001g0099 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0107 a0001c0001t0001g0111 a0001c0001t0001g0189 a0001c0001t0001g0230 a0001c0001t0001g0281 a0001c0001t0001g0335 a0001c0001t0001g0344 a0001c0001t0001g0346 a0001c0001t0001g0349 a0001c0001t0001g0353 a0001c0001t0002g0177 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0190 a0001c0001t0002g0224 a0001c0001t0002g0293 a0001c0001t0004g0112 a0001c0001t0005g0102 a0001c0002t0002g0062 a0001c0002t0002g0101 a0001c0002t0003g0097 a0001c0002t0003g0175 a0001c0003t0001g0065 a0001c0003t0001g0113 a0001c0003t0018g0191 a0001c0005t0003g0176 a0001c0006t0002g0042 a0001c0006t0002g0186 a0001c0011t0019g0196 a0001c0012t0007g0006 a0001c0012t0007g0007 a0001c0021t0002g0284 a0001c0023t0003g0292 a0001c0026t0013g0004 a0003c0007t0006g0359 a0003c0007t0006g0362 a0003c0007t0009g0363	45	368	0.1223	-60	c.263 others(79): Show c.263-13123_263-13064delCACAGCCCTGTCCATGCCCCCAGCTG TGCCCCCAGTACCCGGTGCAGCAGCCTCCCAAGC		STK32C	ENSG00000165752.17	transcript	ENST00000298630.8	protein_coding	1/11						chr10	TogoVar
STK38L_chr12_27239286_27330959	27241256	ATATATAT others(53): Show ATATATATTACATATATGACTCTGTATAGTTATATATATTACATATATGA CTCTGTATAGT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02559.hp1 HG02965.hp1 HG02145.hp2 HG02559.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0122 a0001c0001t0005g0011 a0001c0001t0005g0125 a0001c0001t0001g0122 a0001c0001t0005g0011 a0001c0001t0005g0125	3	374	0.0080	-60	c.-30 others(71): Show c.-3087_-3028delTATATATTACATATATGACTCTGTATAGTTATAT ATATTACATATATGACTCTGTATAGT		STK38L	ENSG00000211455.8	transcript	ENST00000389032.8	protein_coding					3029		chr12	TogoVar
STK3_chr8_98449633_98830688	98825715	CCCGCCCC others(53): Show CCCGCCCCGCCCCGCCCCCGGCCGCCCCGCCCCGCCCCCGGCCGCCCCGC CCCGCCCCCGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00544.hp1 HG00738.hp1 others(17): Show HG00140.hp2 HG00544.hp1 HG00738.hp1 HG01069.hp2 HG01071.hp2 HG01106.hp1 HG01261.hp2 HG01516.hp1 HG02735.hp1 HG03453.hp1 HG04199.hp1 NA18612.hp2 NA18906.hp2 NA18942.hp1 NA18968.hp2 NA18992.hp1 NA19066.hp1 NA19077.hp1 NA19081.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0062 a0001c0001t0001g0088 a0001c0001t0002g0010 others(17): Show a0001c0001t0001g0062 a0001c0001t0001g0088 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0022 a0001c0001t0002g0037 a0001c0001t0002g0039 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0056	20	170	0.1177	-60	c.-23 others(69): Show c.-235_-176delCCGGGGGCGGGGCGGGGCGGCCGGGGGCGGGGCGGG GCGGCCGGGGGCGGGGCGGGGCGG		STK3	ENSG00000104375.17	transcript	ENST00000419617.7	protein_coding					28		chr8	TogoVar
STPG4_chr2_47081991_47160308	47084590	AGAGGCCT others(53): Show AGAGGCCTGAGAGAGGCGGAGGGCAGACCATGAGGCCTGAGAGAGGCGGA GGGCAGACCAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02486.hp1 HG02622.hp1 others(4): Show HG02109.hp2 HG02486.hp1 HG02622.hp1 HG02738.hp1 HG02970.hp2 HG06807.hp1 NA19043.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 a0001c0001t0001 a0002c0002t0001 a0003c0003t0001	a0001c0001t0001g0116 a0001c0001t0001g0167 a0001c0001t0001g0178 others(4): Show a0001c0001t0001g0116 a0001c0001t0001g0167 a0001c0001t0001g0178 a0001c0001t0001g0209 a0002c0002t0001g0291 a0002c0002t0001g0310 a0003c0003t0001g0017	7	352	0.0199	-60	c.23 others(71): Show c.2358_*2417delATGGTCTGCCCTCCGCCTCTCTCAGGCCTCATGG TCTGCCCTCCGCCTCTCTCAGGCCTC		STPG4	ENSG00000239605.11	transcript	ENST00000445927.7	protein_coding					2400		chr2	TogoVar
STPG4_chr2_47081991_47160308	47084613	CAGACCAT others(53): Show CAGACCATGAGGCCTGAGAGAGGCGGAGGGCAGACCATGAGGCCTGAGAG AGGCAGAGGGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(286): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01081.hp2 HG01099.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01515.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03225.hp1 HG03239.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19056.hp1 NA19056.hp2 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0010 a0011	a0001c0001 a0001c0015 a0002c0002 others(8): Show a0001c0001 a0001c0015 a0002c0002 a0003c0003 a0004c0004 a0004c0005 a0005c0006 a0006c0007 a0007c0008 a0010c0010 a0011c0009	a0001c0001t0001 a0001c0001t0002 a0001c0015t0001 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0015t0001 a0002c0002t0001 a0003c0003t0001 a0004c0004t0001 a0004c0005t0001 a0005c0006t0001 a0006c0007t0001 a0007c0008t0001 a0010c0010t0001 a0011c0009t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(281): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0269 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0316 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0322 a0001c0001t0001g0324 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0340 a0001c0001t0001g0341 a0001c0001t0001g0342 a0001c0001t0001g0344 a0001c0001t0002g0005 a0001c0015t0001g0164 a0002c0002t0001g0004 a0002c0002t0001g0277 a0002c0002t0001g0278 a0002c0002t0001g0279 a0002c0002t0001g0280 a0002c0002t0001g0281 a0002c0002t0001g0282 a0002c0002t0001g0283 a0002c0002t0001g0284 a0002c0002t0001g0285 a0002c0002t0001g0287 a0002c0002t0001g0288 a0002c0002t0001g0289 a0002c0002t0001g0290 a0002c0002t0001g0292 a0002c0002t0001g0293 a0002c0002t0001g0294 a0002c0002t0001g0296 a0002c0002t0001g0297 a0002c0002t0001g0298 a0002c0002t0001g0299 a0002c0002t0001g0300 a0002c0002t0001g0301 a0002c0002t0001g0302 a0002c0002t0001g0303 a0002c0002t0001g0304 a0002c0002t0001g0305 a0002c0002t0001g0306 a0002c0002t0001g0307 a0002c0002t0001g0308 a0002c0002t0001g0309 a0002c0002t0001g0311 a0002c0002t0001g0312 a0002c0002t0001g0313 a0002c0002t0001g0325 a0002c0002t0001g0329 a0002c0002t0001g0331 a0002c0002t0001g0332 a0002c0002t0001g0333 a0002c0002t0001g0335 a0002c0002t0001g0336 a0002c0002t0001g0337 a0003c0003t0001g0019 a0003c0003t0001g0020 a0003c0003t0001g0021 a0003c0003t0001g0022 a0003c0003t0001g0023 a0003c0003t0001g0024 a0003c0003t0001g0025 a0003c0003t0001g0026 a0003c0003t0001g0031 a0003c0003t0001g0032 a0003c0003t0001g0033 a0003c0003t0001g0034 a0003c0003t0001g0035 a0003c0003t0001g0036 a0003c0003t0001g0037 a0003c0003t0001g0040 a0003c0003t0001g0042 a0003c0003t0001g0043 a0003c0003t0001g0044 a0003c0003t0001g0045 a0003c0003t0001g0046 a0003c0003t0001g0047 a0003c0003t0001g0048 a0003c0003t0001g0049 a0003c0003t0001g0050 a0003c0003t0001g0051 a0003c0003t0001g0052 a0003c0003t0001g0053 a0003c0003t0001g0054 a0003c0003t0001g0055 a0003c0003t0001g0056 a0003c0003t0001g0057 a0003c0003t0001g0058 a0003c0003t0001g0059 a0003c0003t0001g0060 a0003c0003t0001g0061 a0003c0003t0001g0062 a0003c0003t0001g0063 a0004c0004t0001g0007 a0004c0004t0001g0009 a0004c0004t0001g0010 a0004c0004t0001g0011 a0004c0004t0001g0012 a0004c0004t0001g0015 a0004c0004t0001g0016 a0004c0005t0001g0013 a0005c0006t0001g0129 a0005c0006t0001g0130 a0006c0007t0001g0339 a0007c0008t0001g0345 a0007c0008t0001g0346 a0010c0010t0001g0028 a0011c0009t0001g0006	289	352	0.8210	-60	c.23 others(71): Show c.2335_*2394delCCCCTCTGCCTCTCTCAGGCCTCATGGTCTGCCC TCCGCCTCTCTCAGGCCTCATGGTCT		STPG4	ENSG00000239605.11	transcript	ENST00000445927.7	protein_coding					2377		chr2	TogoVar
STXBP3_chr1_108741674_108814523	108772236	CTATCTGT others(53): Show CTATCTGTATCATATATAAATACATATGATATCTATCTGTATCATATATA AATACATATGA	C C	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG02559.hp2 HG01074.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0024 a0001c0001t0002g0025	2	334	0.0060	-60	c.439 others(75): Show c.439-395_439-336delATCTGTATCATATATAAATACATATGATAT CTGTATCATATATAAATACATATGATATCT		STXBP3	ENSG00000116266.11	transcript	ENST00000370008.4	protein_coding	6/18					INFO_REALIGN_3_PRIME	chr1	TogoVar
STXBP6_chr14_24804454_25055147	24860870	ATATCCTT others(53): Show ATATCCTTAAAATATGATTTTAAAGGAAACAATCAGTATATACCACCTCT ACATCCTCAAC	A A	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0086 a0001c0001t0006g0086	1	242	0.0041	-60	c.155 others(77): Show c.155-3773_155-3714delGTTGAGGATGTAGAGGTGGTATATACTG ATTGTTTCCTTTAAAATCATATTTTAAGGATA		STXBP6	ENSG00000168952.16	transcript	ENST00000323944.10	protein_coding	2/5						chr14	TogoVar
SUPT20HL1_chrX_24355639_24372839	24364290	TGCTGCTG others(53): Show TGCTGCTGCTGCTGCTGCTGCTCCTGCTCCTGCTCTAGCTGCTGCTGCTG CTCCTGCTCTA	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG03130.hp1 HG03130.hp1	a0038 a0038	a0038c0037 a0038c0037	a0038c0037t0003 a0038c0037t0003	a0038c0037t0003g0000 a0038c0037t0003g0000	1	316	0.0032	-60	c.154 others(69): Show c.1546_1605delGCTGCTCCTGCTCCTGCTCTAGCTGCTGCTGCTGCT CCTGCTCTAGCTGCTGCTGCTGCT	p.Ala others(13): Show p.Ala516_Ala535del	SUPT20HL1	ENSG00000223731.4	transcript	ENST00000686983.1	protein_coding	1/1	3668/7201	1546/2664	516/887		INFO_REALIGN_3_PRIME	chrX	TogoVar
SUPT3H_chr6_44821726_45382934	45288553	ATATATAT others(53): Show ATATATATATATGTATATATATATATATATGTATATATATATATGTGTAT ATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp1 HG03710.hp1 others(1): Show HG02895.hp2 HG02897.hp1 HG03710.hp1 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0009 a0001c0001t0007 a0001c0001t0009	a0001c0001t0007g0173 a0001c0001t0007g0188 a0001c0001t0009g0054 others(1): Show a0001c0001t0007g0173 a0001c0001t0007g0188 a0001c0001t0009g0054 a0001c0001t0009g0057	4	262	0.0153	-60	c.101 others(79): Show c.101+76588_101+76647delCATATATATATATACACATATATATA TATACATATATATATATATATACATATATATATA		SUPT3H	ENSG00000196284.18	transcript	ENST00000371459.6	protein_coding	2/10						chr6	TogoVar
SYN2_chr3_11999388_12197032	12162481	TCTCTATG others(53): Show TCTCTATGGATTATTCTCATTCCTACTTTAAAATAATGGTACTTGTTAGG CTTGCCACTAC	T T	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0065 a0002c0002t0001g0065	1	264	0.0038	-60	c.980 others(75): Show c.980+331_980+390delTATGGATTATTCTCATTCCTACTTTAAAAT AATGGTACTTGTTAGGCTTGCCACTACCTC		SYN2	ENSG00000157152.17	transcript	ENST00000621198.5	protein_coding	7/12					INFO_REALIGN_3_PRIME	chr3	TogoVar
SYN3_chr22_32502820_33063381	32604473	CCTGAGAT others(53): Show CCTGAGATACCCTCCCTCACACTCTTTTCTAGGCCAATCCCGTCTCATAC TCATGTCTCCG	C C	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0050 a0002c0002t0050	a0002c0002t0050g0025 a0002c0002t0050g0025	1	184	0.0054	-60	c.712 others(77): Show c.712-7797_712-7738delCGGAGACATGAGTATGAGACGGGATTGG CCTAGAAAAGAGTGTGAGGGAGGGTATCTCAG		SYN3	ENSG00000185666.16	transcript	ENST00000358763.7	protein_coding	6/13						chr22	TogoVar
SYN3_chr22_32502820_33063381	32604509	ATCCCGTC others(53): Show ATCCCGTCTCATACTCATGTCTCCGCTGAGATACCCTCCCTCACACTCTT TTCTAGGCCAG	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00621.hp1 HG00621.hp2 others(45): Show HG00323.hp1 HG00621.hp1 HG00621.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01071.hp1 HG01081.hp1 HG01109.hp1 HG01109.hp2 HG01192.hp1 HG01261.hp2 HG01358.hp1 HG01496.hp2 HG01978.hp2 HG02040.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02145.hp1 HG02280.hp2 HG02572.hp2 HG02630.hp1 HG02647.hp1 HG02723.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03209.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03669.hp1 HG03927.hp2 HG04184.hp1 NA18957.hp2 NA18960.hp1 NA18969.hp1 NA18980.hp2 NA18984.hp1 NA18984.hp2 NA18995.hp2 NA19063.hp1 NA19088.hp1 NA19088.hp2 NA19240.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(3): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(30): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0026 a0001c0001t0039 a0001c0001t0040 a0001c0001t0058 a0001c0001t0060 a0001c0001t0062 a0001c0001t0065 a0001c0001t0066 a0001c0001t0067 a0001c0001t0074 a0001c0001t0075 a0001c0001t0079 a0001c0003t0004 a0001c0003t0005 a0001c0003t0052 a0001c0004t0017 a0001c0005t0029 a0001c0006t0007 a0002c0002t0004 a0002c0002t0048 a0002c0002t0051	a0001c0001t0001g0008 a0001c0001t0001g0036 a0001c0001t0001g0056 others(45): Show a0001c0001t0001g0008 a0001c0001t0001g0036 a0001c0001t0001g0056 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0162 a0001c0001t0002g0007 a0001c0001t0002g0174 a0001c0001t0003g0017 a0001c0001t0003g0125 a0001c0001t0003g0169 a0001c0001t0006g0046 a0001c0001t0007g0079 a0001c0001t0008g0134 a0001c0001t0009g0067 a0001c0001t0010g0087 a0001c0001t0010g0183 a0001c0001t0012g0053 a0001c0001t0012g0115 a0001c0001t0013g0121 a0001c0001t0013g0135 a0001c0001t0014g0060 a0001c0001t0016g0062 a0001c0001t0026g0026 a0001c0001t0026g0171 a0001c0001t0039g0144 a0001c0001t0040g0153 a0001c0001t0058g0180 a0001c0001t0060g0129 a0001c0001t0062g0181 a0001c0001t0065g0076 a0001c0001t0066g0052 a0001c0001t0067g0050 a0001c0001t0074g0071 a0001c0001t0075g0178 a0001c0001t0079g0004 a0001c0003t0004g0105 a0001c0003t0005g0098 a0001c0003t0052g0104 a0001c0004t0017g0055 a0001c0005t0029g0116 a0001c0006t0007g0074 a0002c0002t0004g0059 a0002c0002t0004g0154 a0002c0002t0004g0163 a0002c0002t0004g0167 a0002c0002t0048g0084 a0002c0002t0051g0142	48	184	0.2609	-60	c.712 others(77): Show c.712-7833_712-7774delCTGGCCTAGAAAAGAGTGTGAGGGAGGG TATCTCAGCGGAGACATGAGTATGAGACGGGA		SYN3	ENSG00000185666.16	transcript	ENST00000358763.7	protein_coding	6/13						chr22	TogoVar
SYNE1_chr6_152116687_152642362	152371875	AAGGAAAG others(53): Show AAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGA CAGGACAGGAC	A A	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0034 a0034	a0034c0103 a0034c0103	a0034c0103t0004 a0034c0103t0004	a0034c0103t0004g0092 a0034c0103t0004g0092	1	174	0.0058	-60	c.950 others(79): Show c.9507+1102_9507+1161delGTCCTGTCCTGTCCTTTCCTTTCCTT TCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT		SYNE1	ENSG00000131018.25	transcript	ENST00000367255.10	protein_coding	59/145						chr6	TogoVar
SYNJ2BP_chr14_70361499_70422090	70412522	GTATATAT others(53): Show GTATATATGTATGTATAGTATATATACAGTATATATATGTATGTATAGTA TATATACAGTA	G G	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0067 a0001c0001t0067	a0001c0001t0067g0237 a0001c0001t0067g0237	1	364	0.0028	-60	c.64+ others(75): Show c.64+4318_64+4377delTACTGTATATATACTATACATACATATATA TACTGTATATATACTATACATACATATATA		SYNJ2BP	ENSG00000213463.5	transcript	ENST00000256366.6	protein_coding	1/3						chr14	TogoVar
SYNJ2_chr6_157976863_158104176	158088005	ATTTTAAC others(53): Show ATTTTAACAGTTTATTCCCCTGCTTTGGAATTTTTTTTTTTTTTTTTTTT TTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00639.hp1 HG01071.hp1 others(44): Show HG00408.hp2 HG00639.hp1 HG01071.hp1 HG01099.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp2 HG01358.hp1 HG01361.hp2 HG02027.hp2 HG02056.hp2 HG02071.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02129.hp2 HG02155.hp1 HG02257.hp2 HG02273.hp2 HG02486.hp1 HG02698.hp1 HG03490.hp2 HG03654.hp2 HG03704.hp2 HG03710.hp2 HG04199.hp2 HG04204.hp1 NA18612.hp2 NA18747.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18951.hp1 NA18952.hp1 NA18957.hp1 NA18970.hp2 NA18980.hp2 NA18982.hp2 NA18985.hp1 NA18995.hp2 NA19000.hp2 NA19009.hp2 NA19058.hp2 NA19064.hp2 NA19091.hp1 NA20805.hp1 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0007 a0001c0028 others(2): Show a0001c0001 a0001c0007 a0001c0028 a0001c0041 a0002c0005	a0001c0001t0002 a0001c0001t0013 a0001c0001t0018 others(7): Show a0001c0001t0002 a0001c0001t0013 a0001c0001t0018 a0001c0001t0031 a0001c0007t0002 a0001c0028t0002 a0001c0041t0013 a0002c0005t0003 a0002c0005t0004 a0002c0005t0023	a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0024 others(44): Show a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0024 a0001c0001t0002g0032 a0001c0001t0002g0083 a0001c0001t0002g0085 a0001c0001t0002g0087 a0001c0001t0002g0097 a0001c0001t0002g0110 a0001c0001t0002g0119 a0001c0001t0002g0125 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0140 a0001c0001t0002g0161 a0001c0001t0002g0182 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0208 a0001c0001t0002g0211 a0001c0001t0002g0227 a0001c0001t0002g0229 a0001c0001t0002g0232 a0001c0001t0002g0234 a0001c0001t0002g0242 a0001c0001t0002g0278 a0001c0001t0002g0294 a0001c0001t0002g0295 a0001c0001t0002g0302 a0001c0001t0002g0305 a0001c0001t0002g0306 a0001c0001t0013g0152 a0001c0001t0018g0003 a0001c0001t0031g0201 a0001c0007t0002g0046 a0001c0007t0002g0048 a0001c0007t0002g0050 a0001c0028t0002g0293 a0001c0041t0013g0268 a0002c0005t0003g0265 a0002c0005t0004g0055 a0002c0005t0004g0148 a0002c0005t0004g0149 a0002c0005t0023g0127	47	312	0.1506	-60	c.334 others(77): Show c.3344-650_3344-591delAACAGTTTATTCCCCTGCTTTGGAATTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT		SYNJ2	ENSG00000078269.15	transcript	ENST00000355585.9	protein_coding	23/26					INFO_REALIGN_3_PRIME	chr6	TogoVar
SYNRG_chr17_37509807_37614418	37594154	TATTATTT others(53): Show TATTATTTTAATTATATTAATTACAATATTAATTATTTTAATTATATTAA TTACAATATTA	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00544.hp1 HG00558.hp2 others(119): Show HG00438.hp1 HG00544.hp1 HG00558.hp2 HG00609.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG01070.hp2 HG01109.hp2 HG01168.hp2 HG01243.hp1 HG01496.hp2 HG01515.hp1 HG01517.hp1 HG01884.hp1 HG01934.hp2 HG01993.hp2 HG02004.hp2 HG02027.hp2 HG02040.hp1 HG02080.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02145.hp1 HG02145.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02280.hp1 HG02300.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02602.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02965.hp1 HG02970.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp2 HG03225.hp2 HG03453.hp1 HG03490.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03834.hp2 HG03927.hp2 HG04115.hp2 HG04199.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18939.hp1 NA18943.hp1 NA18944.hp2 NA18949.hp2 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18954.hp1 NA18955.hp1 NA18956.hp2 NA18957.hp2 NA18960.hp2 NA18967.hp2 NA18969.hp2 NA18970.hp2 NA18972.hp2 NA18977.hp2 NA18978.hp1 NA18980.hp2 NA18982.hp2 NA18983.hp2 NA18985.hp2 NA18989.hp2 NA18990.hp1 NA18999.hp2 NA19000.hp1 NA19003.hp2 NA19005.hp1 NA19009.hp1 NA19011.hp1 NA19054.hp1 NA19055.hp2 NA19057.hp2 NA19058.hp2 NA19060.hp2 NA19062.hp1 NA19068.hp1 NA19070.hp1 NA19074.hp2 NA19079.hp2 NA19084.hp1 NA19085.hp2 NA19086.hp1 NA19087.hp1 NA19090.hp2 NA19091.hp2 NA20129.hp2	a0001 a0005 a0008 others(1): Show a0001 a0005 a0008 a0009	a0001c0001 a0001c0006 a0001c0016 others(3): Show a0001c0001 a0001c0006 a0001c0016 a0005c0007 a0008c0014 a0009c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(24): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0017 a0001c0001t0021 a0001c0001t0022 a0001c0001t0031 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0006t0001 a0001c0006t0013 a0001c0016t0006 a0005c0007t0019 a0008c0014t0023 a0009c0015t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(116): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0013 a0001c0001t0001g0027 a0001c0001t0001g0032 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0259 a0001c0001t0001g0262 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0002g0065 a0001c0001t0002g0079 a0001c0001t0002g0268 a0001c0001t0003g0041 a0001c0001t0004g0049 a0001c0001t0004g0083 a0001c0001t0005g0029 a0001c0001t0005g0048 a0001c0001t0008g0016 a0001c0001t0008g0018 a0001c0001t0008g0024 a0001c0001t0008g0026 a0001c0001t0010g0012 a0001c0001t0011g0340 a0001c0001t0011g0341 a0001c0001t0011g0342 a0001c0001t0011g0343 a0001c0001t0012g0035 a0001c0001t0012g0080 a0001c0001t0012g0108 a0001c0001t0012g0111 a0001c0001t0012g0113 a0001c0001t0013g0023 a0001c0001t0015g0051 a0001c0001t0015g0062 a0001c0001t0017g0019 a0001c0001t0017g0025 a0001c0001t0017g0028 a0001c0001t0021g0039 a0001c0001t0021g0082 a0001c0001t0022g0009 a0001c0001t0022g0264 a0001c0001t0031g0021 a0001c0001t0035g0104 a0001c0001t0036g0081 a0001c0001t0037g0057 a0001c0001t0038g0072 a0001c0001t0039g0040 a0001c0001t0040g0033 a0001c0006t0001g0011 a0001c0006t0001g0031 a0001c0006t0013g0017 a0001c0006t0013g0020 a0001c0006t0013g0022 a0001c0006t0013g0030 a0001c0016t0006g0336 a0005c0007t0019g0014 a0005c0007t0019g0015 a0008c0014t0023g0263 a0009c0015t0001g0090	122	349	0.3496	-60	c.240 others(77): Show c.240+2009_240+2068delTAATATTGTAATTAATATAATTAAAATA ATTAATATTGTAATTAATATAATTAAAATAAT		SYNRG	ENSG00000275066.5	transcript	ENST00000612223.5	protein_coding	3/21						chr17	TogoVar
SYT1_chr12_78859774_79457008	79172953	CTAGAGTT others(53): Show CTAGAGTTCCTGCTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAGGGAGTT	C C	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG03195.hp2 NA19240.hp1 HG01261.hp2 HG03195.hp2 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0006 a0001c0002t0008 a0001c0002t0002 a0001c0002t0006 a0001c0002t0008	a0001c0002t0002g0020 a0001c0002t0006g0007 a0001c0002t0008g0002 a0001c0002t0002g0020 a0001c0002t0006g0007 a0001c0002t0008g0002	3	62	0.0484	-60	c.-17 others(79): Show c.-17-44548_-17-44489delAGAGTTCCTGCTCTCAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAGGGAGTTT		SYT1	ENSG00000067715.15	transcript	ENST00000261205.9	protein_coding	3/10					INFO_REALIGN_3_PRIME	chr12	TogoVar
TAF3_chr10_7813505_8021631	7998266	TATATATA others(53): Show TATATATATATATATATATAAATTTAAAAGGGGTAATGTAATTGAACTGG GAATGTTAGGC	T T	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	344	0.0029	-60	c.231 others(81): Show c.2316-10809_2316-10750delATATATATATATATATAAATTTAA AAGGGGTAATGTAATTGAACTGGGAATGTTAGGCAT		TAF3	ENSG00000165632.9	transcript	ENST00000344293.6	protein_coding	4/6					INFO_REALIGN_3_PRIME	chr10	TogoVar
TAF4_chr20_61969798_62070881	61969857	GGCCCCCC others(53): Show GGCCCCCCATCGGAACACTCGGCCCCCTCATCGGGGCACTCGGCCCCCCG TCGGAGCACTC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0001 a0001c0015t0001	a0001c0015t0001g0271 a0001c0015t0001g0271	1	314	0.0032	-60	c.62 others(71): Show c.6251_*6310delGAGTGCTCCGACGGGGGGCCGAGTGCCCCGATGA GGGGGCCGAGTGTTCCGATGGGGGGC		TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding					4940		chr20	TogoVar
TAFA1_chr3_67999247_68550621	68120171	CTCTTTCT others(53): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0084 a0001c0001t0006g0084	1	156	0.0064	-60	c.118 others(81): Show c.118+113461_118+113520delCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT		TAFA1	ENSG00000183662.12	transcript	ENST00000478136.6	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr3	TogoVar
TBCD_chr17_82747065_82950914	82850031	TGCTGTTG others(53): Show TGCTGTTGTTGGCTGTGCTGTTGTTGGCTGTGCTGCTGTTGGCTGTGCTG TGCTGCTGTTG	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02615.hp1 HG02886.hp1 others(3): Show HG02258.hp1 HG02615.hp1 HG02886.hp1 HG03195.hp2 HG03225.hp1 NA18943.hp2	a0002 a0002	a0002c0006 a0002c0007 a0002c0006 a0002c0007	a0002c0006t0005 a0002c0007t0005 a0002c0006t0005 a0002c0007t0005	a0002c0006t0005g0108 a0002c0006t0005g0112 a0002c0006t0005g0250 others(3): Show a0002c0006t0005g0108 a0002c0006t0005g0112 a0002c0006t0005g0250 a0002c0007t0005g0132 a0002c0007t0005g0155 a0002c0007t0005g0167	6	318	0.0189	-60	c.131 others(81): Show c.1319-20187_1319-20128delTGTTGGCTGTGCTGTTGTTGGCTG TGCTGCTGTTGGCTGTGCTGTGCTGCTGTTGGCTGT		TBCD	ENSG00000141556.22	transcript	ENST00000355528.9	protein_coding	13/38					INFO_REALIGN_3_PRIME	chr17	TogoVar
TBCD_chr17_82747065_82950914	82850046	TGCTGTTG others(53): Show TGCTGTTGTTGGCTGTGCTGCTGTTGGCTGTGCTGTGCTGCTGTTGGCTG TGCTGCTGTTG	T T	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0015 a0015	a0015c0022 a0015c0022	a0015c0022t0005 a0015c0022t0005	a0015c0022t0005g0284 a0015c0022t0005g0284	1	318	0.0031	-60	c.131 others(81): Show c.1319-20172_1319-20113delTGTTGGCTGTGCTGCTGTTGGCTG TGCTGTGCTGCTGTTGGCTGTGCTGCTGTTGGCTGT		TBCD	ENSG00000141556.22	transcript	ENST00000355528.9	protein_coding	13/38					INFO_REALIGN_3_PRIME	chr17	TogoVar
TBXAS1_chr7_139824264_140025293	139865590	GGAGGAGG others(53): Show GGAGGAGGAGGAGGAAGAGGAGGAGGAGGAAGAGGAGGAGGAGGAAGAGG AGGAGGAGGAA	G G	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp1 HG00558.hp1 others(25): Show HG00423.hp1 HG00438.hp1 HG00558.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp2 HG00738.hp2 HG01496.hp1 HG01981.hp2 HG02027.hp1 HG02040.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02723.hp1 HG03239.hp2 HG06807.hp1 NA18966.hp2 NA18975.hp2 NA18979.hp1 NA18980.hp2 NA19009.hp2 NA19063.hp1 NA19064.hp2 NA19086.hp2 NA19091.hp1 NA19240.hp2 NA20300.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0012 a0003c0003 a0001c0001 a0001c0012 a0003c0003	a0001c0001t0001 a0001c0012t0001 a0003c0003t0001 a0001c0001t0001 a0001c0012t0001 a0003c0003t0001	a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 others(25): Show a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0054 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0093 a0001c0001t0001g0097 a0001c0001t0001g0124 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0147 a0001c0001t0001g0158 a0001c0001t0001g0170 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0190 a0001c0001t0001g0241 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0012t0001g0078 a0003c0003t0001g0098	28	270	0.1037	-60	c.90- others(75): Show c.90-6585_90-6526delAGAGGAGGAGGAGGAAGAGGAGGAGGAGGA AGAGGAGGAGGAGGAAGAGGAGGAGGAGGA		TBXAS1	ENSG00000059377.19	transcript	ENST00000448866.7	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr7	TogoVar
TBXAS1_chr7_139824264_140025293	139865653	GGAGGAGG others(53): Show GGAGGAGGAGGAAGAGGAGGAGGAGGAAGAGGAGGAGGAGGAAGAGGAGG AGGAGGAGGAA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0225	1	270	0.0037	-60	c.90- others(75): Show c.90-6570_90-6511delAGAGGAGGAGGAGGAAGAGGAGGAGGAGGA AGAGGAGGAGGAGGAGGAAGAGGAGGAGGA		TBXAS1	ENSG00000059377.19	transcript	ENST00000448866.7	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr7	TogoVar
TCF7L2_chr10_112945247_113172678	113117374	TCTCTCTC others(53): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCC	T T	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0155 a0001c0001t0002g0155	1	200	0.0050	-60	c.553 others(79): Show c.553-23785_553-23726delCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCCCTCTCTCTCTCTCTCTCTCTCTCT		TCF7L2	ENSG00000148737.18	transcript	ENST00000355995.9	protein_coding	5/14					INFO_REALIGN_3_PRIME	chr10	TogoVar
TCFL5_chr20_62836005_62866822	62858664	TGCAGGTG others(53): Show TGCAGGTGTTTCCCAGGGAGGAAGGGGCTACGCAGGTGTTTCCCAGGGAG GAAGGGGCTAC	T T	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02735.hp1 HG02602.hp2 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0128 a0001c0001t0001g0119 a0001c0001t0001g0128	2	390	0.0051	-60	c.994 others(75): Show c.994+640_994+699delGTAGCCCCTTCCTCCCTGGGAAACACCTGC GTAGCCCCTTCCTCCCTGGGAAACACCTGC		TCFL5	ENSG00000101190.13	transcript	ENST00000335351.8	protein_coding	3/5						chr20	TogoVar
TELO2_chr16_1488360_1515454	1507811	GGTGTGTG others(53): Show GGTGTGTGTGTGTGTGTGTGTGATGTGTGTTGGCCCGGGGTGTGTGTGTG TGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0003 a0002c0005t0003	a0002c0005t0003g0117 a0002c0005t0003g0117	1	446	0.0022	-60	c.240 others(77): Show c.2407+117_2407+176delATGTGTGTTGGCCCGGGGTGTGTGTGTG TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG		TELO2	ENSG00000100726.15	transcript	ENST00000262319.11	protein_coding	20/20					INFO_REALIGN_3_PRIME	chr16	TogoVar
TELO2_chr16_1488360_1515454	1507851	TGTGTGTG others(53): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGATGTGT GTCGGCCCGGG	T T	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0006 a0006	a0006c0004 a0006c0004	a0006c0004t0003 a0006c0004t0003	a0006c0004t0003g0172 a0006c0004t0003g0172	1	446	0.0022	-60	c.240 others(77): Show c.2407+153_2407+212delTGTGTGTGTGTGTGTGTGTGTGTGTGAT GTGTGTCGGCCCGGGGTGTGTGTGTGTGTGTG		TELO2	ENSG00000100726.15	transcript	ENST00000262319.11	protein_coding	20/20					INFO_REALIGN_3_PRIME	chr16	TogoVar
TERT_chr5_1248167_1300068	1259599	GGATGCCC others(53): Show GGATGCCCACAGGAGAGGGGGAGTGGACACGGATGCCCACAGGAGAGAGG GAGTGGACGCA	G G	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0252 a0001c0003t0001g0252	1	392	0.0026	-60	c.297 others(77): Show c.2970+815_2970+874delTGCGTCCACTCCCTCTCTCCTGTGGGCA TCCGTGTCCACTCCCCCTCTCCTGTGGGCATC		TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	12/15						chr5	TogoVar
TERT_chr5_1248167_1300068	1283782	AGACCTGC others(53): Show AGACCTGCACCATCCGGACACGGCACATCCAGCCCACCAAGGGCCTAGCG ACCTCACCCTG	A A	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	392	0.0026	-60	c.157 others(79): Show c.1574-1218_1574-1159delCAGGGTGAGGTCGCTAGGCCCTTGGT GGGCTGGATGTGCCGTGTCCGGATGGTGCAGGTC		TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	2/15						chr5	TogoVar
TES_chr7_116205539_116263783	116237747	GCCAACAT others(53): Show GCCAACATGGTTGAGTTCTGGTGAGGTCTCTCTTCCTGGCTTACAGACGG CTGCCTTCTCA	G G	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0085 a0001c0002t0004g0085	1	386	0.0026	-60	c.113 others(77): Show c.113+3132_113+3191delACATGGTTGAGTTCTGGTGAGGTCTCTC TTCCTGGCTTACAGACGGCTGCCTTCTCACCA		TES	ENSG00000135269.18	transcript	ENST00000358204.9	protein_coding	2/6					INFO_REALIGN_3_PRIME	chr7	TogoVar
TFB1M_chr6_155251134_155319484	155305569	TTATATAT others(53): Show TTATATATATATTAAATTATATATTTATATATAAATATATATATATTAAA TTATATATTTA	T T	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01109.hp2 HG01167.hp2 others(12): Show HG00733.hp2 HG01109.hp2 HG01167.hp2 HG01243.hp1 HG01346.hp1 HG01433.hp2 HG01515.hp1 HG01517.hp1 HG02300.hp2 HG02717.hp2 HG02738.hp1 HG02965.hp2 HG03486.hp1 NA20905.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0014 a0001c0001t0001 a0001c0001t0004 a0001c0001t0014	a0001c0001t0001g0169 a0001c0001t0004g0168 a0001c0001t0004g0170 others(12): Show a0001c0001t0001g0169 a0001c0001t0004g0168 a0001c0001t0004g0170 a0001c0001t0004g0171 a0001c0001t0004g0172 a0001c0001t0004g0173 a0001c0001t0004g0174 a0001c0001t0004g0175 a0001c0001t0004g0176 a0001c0001t0004g0177 a0001c0001t0004g0180 a0001c0001t0004g0215 a0001c0001t0004g0216 a0001c0001t0004g0217 a0001c0001t0014g0221	15	348	0.0431	-60	c.285 others(77): Show c.285+5559_285+5618delTAAATATATAATTTAATATATATATATT TATATATAAATATATAATTTAATATATATATA		TFB1M	ENSG00000029639.11	transcript	ENST00000367166.5	protein_coding	2/6						chr6	TogoVar
THBS3_chr1_155190588_155212897	155191063	CGGCCTGG others(53): Show CGGCCTGGTGTCCGGGGCCGAGGTGACACCGTGGGCTGCGGGCGCGGTGG AGCCCGGGGCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0003 a0002c0002t0001g0003	1	298	0.0034	-60	c.47 others(71): Show c.4718_*4777delCGCCCCGGGCTCCACCGCGCCCGCAGCCCACGGT GTCACCTCGGCCCCGGACACCAGGCC		THBS3	ENSG00000169231.13	transcript	ENST00000368378.7	protein_coding					4524		chr1	TogoVar
THBS3_chr1_155190588_155212897	155191646	GGCGGTGG others(53): Show GGCGGTGGAGCCCGGGACCGACCTGGTGTCCGGGGCCGAGGTGACACCGT GGGCTGCGGGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02735.hp1 HG02738.hp2 HG03710.hp1 others(3): Show HG02735.hp1 HG02738.hp2 HG03710.hp1 HG04228.hp2 NA18993.hp1 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0025 a0001c0001t0001g0002 a0001c0001t0001g0025	6	298	0.0201	-60	c.41 others(71): Show c.4135_*4194delGCCCGCAGCCCACGGTGTCACCTCGGCCCCGGAC ACCAGGTCGGTCCCGGGCTCCACCGC		THBS3	ENSG00000169231.13	transcript	ENST00000368378.7	protein_coding					3941		chr1	TogoVar
THBS3_chr1_155190588_155212897	155191664	CGACCTGG others(53): Show CGACCTGGTGTCCGGGGCCGAGGTGACACCGTGGGCTGCGGGCGCGGTGG AGCCCGGGGCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp1 NA20129.hp1 HG03688.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	2	298	0.0067	-60	c.41 others(71): Show c.4117_*4176delCGCCCCGGGCTCCACCGCGCCCGCAGCCCACGGT GTCACCTCGGCCCCGGACACCAGGTC		THBS3	ENSG00000169231.13	transcript	ENST00000368378.7	protein_coding					3923		chr1	TogoVar
THBS3_chr1_155190588_155212897	155191706	CGCGGTGG others(53): Show CGCGGTGGAGCCCGGGGCGGACCTGGTGTCCGGGGCCGAGGTGACACCGT GGGCTGGGGGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	298	0.0034	-60	c.40 others(71): Show c.4075_*4134delCCCCCCAGCCCACGGTGTCACCTCGGCCCCGGAC ACCAGGTCCGCCCCGGGCTCCACCGC		THBS3	ENSG00000169231.13	transcript	ENST00000368378.7	protein_coding					3881		chr1	TogoVar
THSD7B_chr2_136760545_137682718	136890347	TTCTTCTT others(53): Show TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTTCCTCTTCCTCTTCCT CTTCCTCTTCC	T T	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0047 a0003c0002t0001g0047	1	98	0.0102	-60	c.139 others(77): Show c.139+8060_139+8119delCTCTTCCTCTTCCTCTTCCTCTTCCTCT TCCTCTTCTTCTTCTTCTTCTTCTTCTTCTTC		THSD7B	ENSG00000144229.13	transcript	ENST00000409968.6	protein_coding	2/27					INFO_REALIGN_3_PRIME	chr2	TogoVar
TIAM1_chr21_31113418_31349261	31210693	GAAAGAAA others(53): Show GAAAGAAAGAAAGAGAAAGAAAGAGAAAGAAAGAAAGAGAAAGAAGGAAG GAAGGGAGAAA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02896.hp1 HG01109.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0016 a0001c0001t0002 a0001c0002t0016	a0001c0001t0002g0142 a0001c0002t0016g0143 a0001c0001t0002g0142 a0001c0002t0016g0143	2	212	0.0094	-60	c.221 others(77): Show c.2218-538_2218-479delTTTCTCCCTTCCTTCCTTCTTTCTCTTT CTTTCTTTCTCTTTCTTTCTCTTTCTTTCTTT		TIAM1	ENSG00000156299.15	transcript	ENST00000541036.6	protein_coding	10/27						chr21	TogoVar

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